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| Ataxia v2.193 | RHOBTB2 | Bryony Thompson Classified gene: RHOBTB2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.193 | RHOBTB2 | Bryony Thompson Gene: rhobtb2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.192 | RHOBTB2 |
Bryony Thompson gene: RHOBTB2 was added gene: RHOBTB2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: RHOBTB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RHOBTB2 were set to 37982109; 33504645 Phenotypes for gene: RHOBTB2 were set to developmental and epileptic encephalopathy, 64, MONDO:0033373 Review for gene: RHOBTB2 was set to GREEN Added comment: PMID 37982109 reports seven individuals from seven families and PMID 33504645 reports eleven individuals from eleven families with heterozygous de novo missense RHOBTB2 variants causing developmental and epileptic encephalopathy 64 with childhood‑onset ataxia, seizures and movement disorder. Sources: Literature |
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